Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1

• Published in: Graefe's archive for clinical and experimental ophthalmology Vol. 256; no. 2; pp. 307 - 311
• Main Authors: Moramarco, Antonietta, Giustini, Sandra, Nofroni, Italo, Mallone, Fabiana, Miraglia, Emanuele, Iacovino, Chiara, Calvieri, Stefano, Lambiase, Alessandro
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01-02-2018; Springer Nature B.V
• Subjects: Acuity; Brain cancer; Genetic disorders; Glioma; I.R. radiation; Magnetic resonance imaging; Medicine; Medicine & Public Health; Neurofibromatosis; Neuroimaging; Neurological disorders; Nodules; Ophthalmology; Optic nerve; Pressure; Recklinghausen's disease; Retinal Disorders; Retinography; Statistical analysis; Tumors; Choroid; Neurofibromatosis type 1; NIR-Oct; Lisch nodules; Ophthalmoscopy
• ISSN: 0721-832X; 1435-702X
• DOI: 10.1007/s00417-017-3870-z

Purpose
Only a few reports in the literature have investigated the presence of ocular abnormalities in neurofibromatosis type 1 (NF-1) patients. The aim of this study was to evaluate the prevalence of ocular abnormalities in a large population of NF1 patients, focusing on the choroidal changes.
Methods
This study was conducted on 160 consecutive patients with NF1 and 106 sex- and age-matched healthy subjects (control). Each patient underwent a complete ophthalmological examination inclusive of best-corrected visual acuity, intraocular pressure measurement, slit-lamp biomicroscopy, indirect fundus biomicroscopy, and near-infrared reflectance (NIR) retinography by using the spectral domain OCT. Moreover, all patients underwent complete dermatological exam and 1.5-Tesla MRI scan of the brain to assess the presence of optic nerve gliomas.
Results
Choroidal abnormalities were detected in 97% of patients, with a positive predictive value of 100% and a negative predictive value of 96.4%. Interestingly, a small number of patients (4/160; 2.5%) showed Lisch nodules without choroidal abnormalities, whereas a larger number of patents (22/160; 13.75%) presented choroidal lesions in absence of Lisch nodules. None of the patients showed the absence of both choroidal lesions and Lisch nodules. The number of choroidal lesions increased with age (
r
 = 0.364,
p
 = 0.0001) and with the severity of pathology (
r
 = 0.23,
p
 = 0.003). Any statistically significant correlation between choroidal lesions, visual acuity, and intraocular pressure was observed.
Conclusions
NIR imaging represents an in vivo, non-invasive, sensitive and reproducible exam to detect choroidal nodules in NF-1 patients, suggesting that choroidal changes may represent an additional diagnostic criteria for NF1.